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SNP imputation in association studies

Only a subset of single-nucleotide polymorphisms (SNPs) can be genotyped in genome-wide association studies. Imputation methods can infer the alleles of 'hidden' variants and use those inferences to test the hidden variants for association.

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Figure 1: Models used in imputation methods.


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E.H. is a faculty fellow of the Edmond J. Safra Bioinformatics program at Tel Aviv University. E.H. was supported by National Science Foundation grant IIS-071325412 and by the Israel Science Foundation grant no. 04514831.

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Correspondence to Dietrich A Stephan.

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Halperin, E., Stephan, D. SNP imputation in association studies. Nat Biotechnol 27, 349–351 (2009).

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